Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio, +28

Nature Genetics

Noonan-like SyndromeLoose Anagen HairGeneticsPathologyMolecular Genetics +1

Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis

Elena V. Polishchuk, Assunta Merolla, Josef Lichtmannegger, +21

Gastroenterology

From Atp7b-deficient AnimalsMitophagyApoptosisPathologyCell Death +14

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni, +45

The American Journal of Human Genetics

Signal TransductionSignaling PathwayCell RegulationFunctional DysregulationGene Expression +3

Efficient and cell specific knock-down of gene function in targeted C. elegans neurons

Giovanni Esposito, Elia Di Schiavi, Carmela Bergamasco, +1

Gene

Developmental BiologyMolecular NeuroscienceGene RegulationCell Specific Knock-downGene Expression +3

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, +45

Human Molecular Genetics

EngineeringGeneticsPathologyMolecular GeneticsRas Genes +15

Nanoalgosomes: Introducing extracellular vesicles produced by microalgae

Giorgia Adamo, David Fierli, Daniele P. Romancino, +32

Journal of Extracellular Vesicles

The Kallmann syndrome gene homolog in<i>C. elegans</i>is involved in epidermal morphogenesis and neurite branching

Elena I. Rugarli, Elia Di Schiavi, Massimo A. Hilliard, +6

Development

GeneticsKallmann SyndromeMolecular GeneticsCellular NeurobiologyNematode Proteins +20

Isolation of extracellular vesicles from microalgae: towards the production of sustainable and natural nanocarriers of bioactive compounds

Sabrina Picciotto, Maria Elena Barone, David Fierli, +29

Biomaterials Science

The C. elegans H3K27 Demethylase UTX-1 Is Essential for Normal Development, Independent of Its Enzymatic Activity

Julien Vandamme, Gaëlle Lettier, Simone Sidoli, +3

PLoS Genetics

GeneticsMolecular GeneticsEssential GeneEpigeneticsEnzymatic Activity +15

Optofluidic holographic microscopy with custom field of view (FoV) using a linear array detector

Vittorio Bianco, Melania Paturzo, Valentina Marchesano, +3

Lab on a Chip